Transthyretin amyloid cardiomyopathy: clinical features and staging, indications for treatment and mortality

Abstract

Transthyretin amyloid cardiomyopathy is still an underdiagnosed disease, but it is progressive and fatal without treatment. Methods: retrospective observational study to describe clinical characteristics, indications for disease-modifying treatment and mortality. Results: between SEP-2019 and AUG-2024, 32 patients were diagnosed, 24 (75%) men, median age 81.5 years. Eighteen were wild type (56.2%) confirmed by genetic test and 2 of them (11.1%) had the Val30Met variant; in 12/32 (37.5%) the test was not performed. Seven patients (21.8%) were in NYHA class I, 16 (50%) in class II and 9 (28.1%) in class III; there were no patients in class IV. According to the National Amyloidosis Centre of the United Kingdom (NAC) 21 patients (75%) were in stage I, 4 (14%) in II and only 3 (10.7%) in III; 4 cases were not staged. Atrial fibrillation was observed at 16 (50%) and moderate or severe aortic stenosis in 8 (25%). Disease modifying treatment (tafamidis) was indicated in 17 cases (53.1%) and was effectively received by 8 patients (25%). Nine patients died (28.1%), 7 due to cardiac causes without disease-modifying treatment and 2 due to non-cardiac causes with disease-modifying treatment. Conclusions: most patients were in NYHA class I and II and NAC stage I and II, and atrial fibrillation and aortic stenosis were very frequent. Disease-modifying treatment was indicated in more than 50% of the cases, but only 25% received it; of the 9 patients who died, 7 were without disease-modifying treatment.